ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698930
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
869096
ClinVar RCV Id:
RCV001078132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ala17Asp
CA10602058
NM_007298.3:c.50C>A